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Maternal-Fetal Medicine (High-Risk Pregnancy)

Pregnancy can be a stressful and emotionally challenging time for many families. We have the expertise and resources to help, whether you have an underlying medical condition, problems with poor pregnancy outcomes, or a suspected or known problem with your baby (fetus).

Team-Based Approach

Cleveland Clinic's unique team-based approach gives women who seek care for pregnancy-related complications many advantages. Patients will have immediate access to experts in the care of newborns, including neonatologists and pediatric surgeons and subspecialists.

For example, if a baby has been found to have a heart defect, our team consists of pediatric cardiologists and cardiac surgeons, who will help further counsel the family and prepare them for the child’s care after birth.

Our team in maternal-fetal medicine consists of:

Maternal-Fetal Medicine Subspecialists (Perinatologists)

Genetic counselors and medical geneticists

Neonatologists (experts in the care of newborns)

Pediatric surgeons and subspecialists

Licensed sonographers

Perinatal Nurses

If patients have a preexisting condition or develop a medical complication during pregnancy, they will have the resources of one America’s top hospitals immediately available them.

Screening for Chromosome Abnormalities in Pregnancy

About the Program

Cleveland Clinic offers options for women who are interested in determining the risk for chromosome abnormalities and certain birth defects in their baby during a pregnancy. These tests allow patients the opportunity early in pregnancy to find out if their baby has one of these conditions.

While the risk for having a baby with a chromosome abnormality increases with a women’s age at the time of delivery, the majority of these babies are born to younger women. Thus, screening is an option for everyone. Having this testing performed is optional and should only be done after a thorough discussion of available tests. In some instances, your provider may refer you for genetic counseling to see which, if any, test is best for you.

The sequential screen combines ultrasound and blood tests to determine the risk for chromosome abnormalities, including Down syndrome (Trisomy 21) and Trisomy 18. It also determines the risk for a group of birth defects known as open neural tube defects (ONTD’s), which include spina bifida. Ultrasound examination is performed in the first trimester between 11 and 13 6/7 – weeks’ gestational age and involves measuring the nuchal translucency. The nuchal translucency is a fluid filled space behind the neck, which is typically increased in size in fetuses with Down syndrome, other chromosome abnormalities, and birth defects. Blood tests, which measure the levels of certain hormones in the mother, are drawn at the time of the nuchal translucency measurement and later in the second trimester between 15 and 21 weeks’ gestational age.

Results are made available following first trimester testing and again after second trimester blood test.

This provides women at the highest risk for having a baby with Down syndrome or Trisomy 18 with results in the first trimester.

This test can detect approximately 90 to 92 percent of fetuses with Down syndrome and 90 percent of fetuses with Trisomy 18, while maintaining a false positive rate of 5 percent.

Patients at increased risk for chromosome abnormalities based on their sequential screen results have the opportunity for additional testing, which can provide them with a more definitive answer. This includes a new test called non-invasive prenatal testing (see below) or more invasive testing such as chorionic villus sampling or amniocentesis.

The sequential test identifies approximately 80 percent of babies with ONTD’s, and when combined with ultrasound in the second trimester, virtually all these cases can be detected.

There are no risks to the mother or the fetus with the sequential screen test.

For patients who present for care after the first trimester or decide later in pregnancy to undergo screening, the quad screen can be performed in the second trimester between 15 and 21 weeks’ gestational age. This test detects 75 to 80 percent of cases of Down syndrome and 60 to 75 percent of cases of Trisomy 18, with a 5 to 7 percent false positive rate. It can also detect approximately 80 percent of cases on ONTD’s.

All patients, regardless of their choice to undergo screening, are offered a detailed ultrasound to evaluate fetal anatomy between 18 and 20 weeks’ gestational age.

Non-Invasive Prenatal Testing (NIPT)

This is a new test that is now available for women with risk factors for having a baby with chromosomal abnormalities. NIPT evaluates DNA from the baby, which is found in the mother’s blood, to determine risks for chromosome abnormalities such as Down syndrome, Trisomy 18, and Trisomy 13. Again, this is a blood test for the mother and poses no risk to the pregnancy. NIPT can be performed any time after 10 weeks’ gestational age. At the present time, NIPT is not recommended for routine screening or in patients with multiple gestations (twins, triplets, etc.)

You should consider NIPT if any of the following applies to you:

Age greater than 35 at the time of delivery

Abnormal screening test (sequential or quad screen)

Abnormal findings on ultrasound

Previous history of a chromosome abnormality

Genetic counseling is strongly recommended before and after this testing is done.

NIPT can detect approximately 99 percent of fetuses with Down syndrome and Trisomy 18 and up to 92 percent of fetuses with Trisomy.

False positive results are rare but possible.

There is no risk to mother or fetus.

NIPT will decrease the need for invasive testing for many patients; however, further testing with amniocentesis or chorionic villus sampling may still be necessary in some cases with abnormal ultrasound findings, even after a negative NIPT result.

NIPT does not provide a risk for ONTD’s. This result can be obtained via the maternal serum alpha-fetoprotein (MSAFP), which should be performed between 15 and 21 weeks’ gestational age.

All patients undergoing NIPT should have a detailed ultrasound to evaluate fetal anatomy between 18 and 20 weeks’ gestational age.

Prenatal Testing and Diagnosis

Prenatal, or intrauterine, diagnosis is a process that can identify some birth defects and genetic disorders in your child before birth.

Cleveland Clinic's Center for Personalized Genetic Healthcare uses several different testing and evaluation techniques to perform prenatal diagnosis. Depending on your age, family health history and other risk factors, you may undergo a blood draw, an ultrasound examination of your pregnancy, or more invasive forms of testing such as chorionic villus sampling or amniocentesis.

Appointments and Genetic Counselors

More than 300 disorders can be detected in unborn infants. Some of the birth defects and genetic disorders for which Medical Genetics provides testing include:

Down's syndrome (Trisomy 21)

Cystic fibrosis

Sickle cell disease

Tay-Sachs disease

Fragile X syndrome (a leading cause of mental retardation)

Spina bifida

Heart defects

These disorders can have different forms of inheritance, and a genetic counselor may be able to give you a better idea of the chance that your baby will be affected. The first step in the process is to obtain a detailed family history to determine the conditions for which your baby is at risk. Then, information from blood testing and/or ultrasound can be used to provide an assessment of risk, and you may have to make a decision regarding a more invasive procedure for diagnosis. For example, a baby's sex can be determined before birth with ultrasound. This is important in assessing the risk for certain diseases such as muscular dystrophy or hemophilia, which are typically passed from unaffected mothers (carriers) to their sons. For a mother who is known to be a carrier for one of these conditions, there is a 50 percent chance that male offspring will be affected by the disorder.

Not all disorders present at birth can be detected through the tests that are currently available, and some babies who have normal test results are born with birth defects or genetic disorders. A normal ultrasound, maternal blood test, amniocentesis or chorionic villus sample does not guarantee that a baby will not have a problem, but normal test results usually indicate that chances for having a baby without genetic disorders are high.

Reasons For Having Prenatal Testing

The decision to undergo prenatal testing and diagnosis is a personal one. Your doctor can make recommendations, but you must make the decision. Prenatal testing can lead to early detection of certain birth defects or other problems that may require special care. This testing offers parents the opportunity to learn about these conditions and make decisions and plans long before the baby is delivered. Prenatal testing helps parents and doctors work together for the best management of a pregnancy known to be at risk.

Who Should Have Prenatal Testing

Your obstetrician may recommend prenatal testing and diagnosis if you have a higher-than-normal risk of giving birth to a baby with a birth defect or genetic disorder. Women who meet any of the follow criteria have an increased risk and should consider prenatal testing:

Maternal age of 35 or greater at the time of delivery. The risk of chromosomal abnormalities increases significantly after age 35.

A previous child with a chromosomal abnormality, birth defect or other inherited condition.

Family history or an inherited disorder.

Those who are carriers of X-linked diseases such as hemophilia or muscular dystrophy.

Those who are carriers, or whose partners are carriers, of a known genetic disorder.

Belonging to a certain ethnic group or race among which certain inherited disorders are prevalent (e.g., Ashkenazi Jew, French Canadian or Cajun ancestry)

Abnormal findings on a fetal ultrasound.

Personalized Care

The prenatal diagnosis process begins with a meeting with one of our genetic counselors. Your genetic counselor is the person who will guide you through the entire process, explain the various tests available and the risks associated with each, interpret the results and discuss your options at each step. At your first meeting, the counselor will ask you about your family's health history, as well as your personal medical history and that of the baby's father. You should feel comfortable in raising any questions or concerns that you might have with your counselor.

Consultative Services

Cleveland Clinic maternal-fetal medicine specialists or perinatologists primarily provide consultative services to obstetricians throughout Northeast Ohio. We work in close collaboration with them to manage a wide variety of problems that can arise during pregnancy.

Understanding the importance of the bond between patients and their physicians, our perinatal team strives to keep in close contact with the referring physician by communicating regularly over the course of the pregnancy. In certain situations, depending on the severity of either the mother's or the fetus's condition, the patient’s care can be transferred to our practice at Cleveland Clinic.

Preconception Evaluation and Counseling

For patients with significant medical problems and/or history of serious pregnancy complications, the decision to carry a pregnancy must not be taken lightly. Careful planning and taking appropriate measures prior to pregnancy can help prevent or significantly decrease the risk for adverse outcomes in future pregnancies.

Cleveland Clinic has established the Fetal Care Center to help mothers achieve the best possible outcome when a pregnancy is complicated by a maternal, fetal or obstetric disorder. Staff view the fetus as a patient, while respecting the health and well-being of the mother, which always remains the primary objective. We serve Cleveland Clinic obstetric patients from Hillcrest Hospital, Marymount Hospital, Fairview Hospital and our Family Health and Surgery Centers, as well as mothers referred by obstetric providers outside the healthcare system. When fetal anomalies (birth defects) are detected, we offer interdisciplinary diagnosis, counseling and treatment options at our children’s hospital.

Our program affords tremendous flexibility for the referring physician and expectant mother. For more straightforward problems, our center can provide definitive diagnosis and, in some instances, in utero intervention. The patient can then be referred back to her primary obstetrician for prenatal follow-up and delivery. For more complex problems, we offer longitudinal, coordinated care provided by a core team of maternal-fetal medicine specialists, neonatologists, pediatric surgeons, pediatric radiologists, pediatric cardiologists and a Fetal Care Nurse Coordinator. If needed, our program streamlines access to virtually any maternal or pediatric subspecialist who may be required, such as pediatric anesthesiologists and pediatric congenital heart surgeons. Similarly, when there is a maternal health concern, we work closely with specialists throughout our healthcare system to optimize outcomes for both the mother and her fetus.

Cleveland Clinic Children’s has opened a Special Delivery Unit on our main campus for patients whose pregnancies are complicated by serious maternal or fetal conditions. The unit adjoins a new Pediatric Cardiac Catheterization Laboratory and is in close proximity to a state-of-the-art pediatric surgical suite and Level III Neonatal Intensive Care Unit.

Cleveland Clinic Maternal-Fetal Medicine Locations

We offer convenience and efficiency that is unmatched in Northeast Ohio by providing services in a variety of settings and at numerous locations throughout the region. Our goal is to get patients in to be seen in a timely manner, while keeping them close to home.

Cleveland Clinic offers new options for women who want to determine a baby’s risk for chromosome abnormalities and other birth defects early in pregnancy. We invite you to view the video to the right for more information on screening options.